Mutagenetix > Incidental Mutation

Incidental Mutation 'R3930:Slc25a54'

308412

Institutional Source

Beutler Lab

Gene Symbol

Slc25a54

Ensembl Gene

ENSMUSG00000027880

Gene Name

solute carrier family 25, member 54

Synonyms

4930443G12Rik, SCaMC-1like

MMRRC Submission

040917-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R3930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108987815-109023898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109023820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 472 (L472I)

Ref Sequence

ENSEMBL: ENSMUSP00000029478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029478] [ENSMUST00000159926]

AlphaFold

B1AUS6

Predicted Effect

probably benign
Transcript: ENSMUST00000029478
AA Change: L472I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: L472I

Domain	Start	End	E-Value	Type
EFh	23	51	4.28e0	SMART
EFh	59	87	3.82e0	SMART
EFh	90	118	4.12e-3	SMART
EFh	126	154	3.44e1	SMART
Pfam:Mito_carr	191	283	3.7e-25	PFAM
Pfam:Mito_carr	284	376	7.2e-24	PFAM
Pfam:Mito_carr	383	472	2.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159926

SMART Domains

Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880

Domain	Start	End	E-Value	Type
Blast:EFh	1	21	6e-9	BLAST
Pfam:Mito_carr	57	150	3.2e-26	PFAM
Pfam:Mito_carr	151	243	3.6e-25	PFAM
Pfam:Mito_carr	249	339	1.5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198512

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	C	T	4: 144,396,698 (GRCm39)	E345K	probably damaging	Het
Bpifb1	A	G	2: 154,057,242 (GRCm39)	N400S	possibly damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Crhr1	T	A	11: 104,044,377 (GRCm39)	S22T	probably benign	Het
Cyp4a10	G	T	4: 115,381,980 (GRCm39)	V221L	probably benign	Het
D1Pas1	G	T	1: 186,700,477 (GRCm39)	W135C	probably damaging	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,911,699 (GRCm39)	D66G	probably damaging	Het
Fzd10	G	A	5: 128,679,476 (GRCm39)	V399M	probably damaging	Het
Gm10801	T	A	2: 98,494,361 (GRCm39)	I146N	possibly damaging	Het
Gm525	T	A	11: 88,965,830 (GRCm39)		probably null	Het
Gpr37l1	T	C	1: 135,089,100 (GRCm39)	I322V	probably benign	Het
Grid2ip	T	G	5: 143,371,794 (GRCm39)	S679R	probably damaging	Het
Gyg1	A	T	3: 20,209,189 (GRCm39)	S15T	probably benign	Het
Hace1	G	A	10: 45,587,604 (GRCm39)	C901Y	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,949,018 (GRCm39)	A27V	probably benign	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Igf2r	T	C	17: 12,924,716 (GRCm39)	I1034V	probably benign	Het
Itpr1	A	G	6: 108,371,802 (GRCm39)	T1159A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Lrrc45	C	T	11: 120,609,503 (GRCm39)	A422V	probably benign	Het
Lrrk2	T	A	15: 91,651,664 (GRCm39)		probably null	Het
Map3k4	T	C	17: 12,454,880 (GRCm39)	H1370R	possibly damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nfkbil1	G	T	17: 35,439,932 (GRCm39)	Q194K	probably benign	Het
Nin	C	T	12: 70,125,016 (GRCm39)	G102E	probably damaging	Het
Nmt1	T	C	11: 102,943,059 (GRCm39)	V138A	probably benign	Het
Optc	T	A	1: 133,828,920 (GRCm39)	R176*	probably null	Het
Or10aa3	A	T	1: 173,878,076 (GRCm39)	I46F	probably damaging	Het
Or4c110	A	G	2: 88,832,377 (GRCm39)	F85S	probably benign	Het
Or52ae9	A	C	7: 103,389,794 (GRCm39)	Y218D	probably damaging	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Plxna2	G	A	1: 194,477,218 (GRCm39)	A1243T	probably benign	Het
Rin1	G	T	19: 5,103,002 (GRCm39)	L430F	probably benign	Het
Ros1	A	T	10: 52,070,944 (GRCm39)	S37T	possibly damaging	Het
Rrp36	G	T	17: 46,983,732 (GRCm39)	Q27K	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Sfrp5	T	G	19: 42,190,257 (GRCm39)	Y65S	probably damaging	Het
Slc35d3	T	C	10: 19,724,605 (GRCm39)	E417G	probably damaging	Het
Sumf2	A	G	5: 129,878,820 (GRCm39)	D52G	probably benign	Het
Sympk	A	G	7: 18,781,447 (GRCm39)	N801S	possibly damaging	Het
Taf7l2	G	T	10: 115,948,540 (GRCm39)	Q329K	possibly damaging	Het
Tcstv2c	G	A	13: 120,616,368 (GRCm39)	C69Y	probably damaging	Het
Tmem38b	T	C	4: 53,854,398 (GRCm39)	F210S	probably damaging	Het
Tnks	T	A	8: 35,407,966 (GRCm39)	H254L	probably damaging	Het
Trappc10	A	T	10: 78,046,237 (GRCm39)	V451E	probably benign	Het
Trim43a	A	T	9: 88,465,131 (GRCm39)	I153F	probably benign	Het
Tulp1	T	C	17: 28,572,683 (GRCm39)	N213S	probably damaging	Het
Ubr1	T	C	2: 120,746,951 (GRCm39)	D830G	probably benign	Het
Uqcc3	C	T	19: 8,858,069 (GRCm39)		probably null	Het
Vmn2r26	T	A	6: 124,002,938 (GRCm39)	M116K	probably benign	Het
Zscan12	A	G	13: 21,552,800 (GRCm39)	Q208R	probably benign	Het

Other mutations in Slc25a54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slc25a54	APN	3	109,020,176 (GRCm39)	missense	possibly damaging	0.76
IGL02635:Slc25a54	APN	3	109,020,133 (GRCm39)	missense	possibly damaging	0.71
IGL02944:Slc25a54	APN	3	108,987,931 (GRCm39)	missense	probably benign	0.14
IGL02987:Slc25a54	APN	3	109,023,653 (GRCm39)	missense	probably benign
IGL03346:Slc25a54	APN	3	108,993,046 (GRCm39)	intron	probably benign
R0491:Slc25a54	UTSW	3	109,010,112 (GRCm39)	missense	probably damaging	1.00
R0520:Slc25a54	UTSW	3	109,014,546 (GRCm39)	splice site	probably benign
R0645:Slc25a54	UTSW	3	109,019,481 (GRCm39)	missense	possibly damaging	0.70
R1803:Slc25a54	UTSW	3	109,010,013 (GRCm39)	missense	probably benign
R1869:Slc25a54	UTSW	3	108,987,932 (GRCm39)	nonsense	probably null
R1870:Slc25a54	UTSW	3	108,987,932 (GRCm39)	nonsense	probably null
R3024:Slc25a54	UTSW	3	108,987,982 (GRCm39)	missense	probably damaging	1.00
R3763:Slc25a54	UTSW	3	109,019,370 (GRCm39)	missense	probably damaging	1.00
R3941:Slc25a54	UTSW	3	109,019,479 (GRCm39)	missense	probably damaging	1.00
R4346:Slc25a54	UTSW	3	109,010,055 (GRCm39)	missense	possibly damaging	0.52
R4347:Slc25a54	UTSW	3	109,010,055 (GRCm39)	missense	possibly damaging	0.52
R4445:Slc25a54	UTSW	3	109,005,984 (GRCm39)	missense	probably benign	0.00
R4735:Slc25a54	UTSW	3	109,005,923 (GRCm39)	missense	probably damaging	0.96
R4914:Slc25a54	UTSW	3	109,018,395 (GRCm39)	missense	probably benign	0.34
R4960:Slc25a54	UTSW	3	109,020,132 (GRCm39)	missense	possibly damaging	0.95
R5052:Slc25a54	UTSW	3	109,010,016 (GRCm39)	missense	probably benign	0.03
R5106:Slc25a54	UTSW	3	109,020,180 (GRCm39)	missense	probably benign	0.02
R5806:Slc25a54	UTSW	3	108,987,894 (GRCm39)	missense	probably benign
R5936:Slc25a54	UTSW	3	109,005,954 (GRCm39)	missense	possibly damaging	0.88
R6511:Slc25a54	UTSW	3	109,001,572 (GRCm39)	missense	possibly damaging	0.92
R6532:Slc25a54	UTSW	3	109,019,368 (GRCm39)	missense	probably damaging	1.00
R6879:Slc25a54	UTSW	3	109,020,150 (GRCm39)	missense	possibly damaging	0.94
R7139:Slc25a54	UTSW	3	109,005,905 (GRCm39)	missense	probably damaging	1.00
R7179:Slc25a54	UTSW	3	109,014,573 (GRCm39)	missense	probably benign	0.00
R7282:Slc25a54	UTSW	3	109,023,817 (GRCm39)	nonsense	probably null
R7336:Slc25a54	UTSW	3	109,023,751 (GRCm39)	missense	probably benign	0.00
R7355:Slc25a54	UTSW	3	109,010,085 (GRCm39)	missense	probably damaging	1.00
R7713:Slc25a54	UTSW	3	109,010,133 (GRCm39)	missense	probably damaging	0.99
R8061:Slc25a54	UTSW	3	109,018,361 (GRCm39)	missense	probably damaging	1.00
R8282:Slc25a54	UTSW	3	109,006,005 (GRCm39)	critical splice donor site	probably null
R9095:Slc25a54	UTSW	3	109,019,404 (GRCm39)	missense	probably benign	0.09
R9156:Slc25a54	UTSW	3	109,001,548 (GRCm39)	missense	probably benign	0.03
R9568:Slc25a54	UTSW	3	109,005,932 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc25a54	UTSW	3	109,019,434 (GRCm39)	frame shift	probably null
Z1177:Slc25a54	UTSW	3	109,010,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTAGTCATGCTGGAAAAGGAAAC -3'
(R):5'- GCCTACCAAGTGTTTCCTAATG -3'

Sequencing Primer
(F):5'- ACAGTGCGCATGATGCAGC -3'
(R):5'- TAGGAATGCATTACACCATCGAATC -3'

Posted On

2015-04-17